{ "uniprot_canonical_ac": "P11169-1", "uniprot_ac": "P11169", "uniprot_id": "GTR3_HUMAN", "mass": { "chemical_mass": 53924.0, "monoisotopic_mass": 53924.0 }, "refseq": { "ac": "NP_008862", "name": "solute carrier family 2, facilitated glucose transporter member 3", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862" }, "gene_names": [ { "name": "SLC2A3", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11169", "id": "P11169" }, { "name": "GLUT3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862", "id": "NP_008862" }, { "name": "GLUT3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11169", "id": "P11169" }, { "name": "SLC2A3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862", "id": "NP_008862" } ], "protein_names": [ { "name": "Solute carrier family 2, facilitated glucose transporter member 3", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11169" }, { "name": "GLUT-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11169" }, { "name": "Glucose transporter type 3, brain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11169" }, { "name": "glucose transporter type 3, brain; GLUT-3; solute carrier family 2 (facilitated glucose transporter), member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862", "id": "NP_008862" }, { "name": "solute carrier family 2, facilitated glucose transporter member 3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862", "id": "NP_008862" } ], "function": [ { "annotation": "Concurrent presence of diabetes affects the GLUT3 programming of glucose metabolism in glioblastoma.", "evidence": [ { "database": "RefSeq", "id": "NP_008862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862" }, { "database": "PubMed", "id": "37750639", "url": "https://glygen.org/publication/PubMed/37750639" } ] }, { "annotation": "Facilitative glucose transporter (PubMed:9477959, PubMed:26176916). Can also mediate the uptake of various other monosaccharides across the cell membrane (PubMed:9477959, PubMed:26176916). Mediates the uptake of glucose, 2-deoxyglucose, galactose, mannose, xylose and fucose, and probably also dehydroascorbate (PubMed:9477959, PubMed:26176916). Does not mediate fructose transport (PubMed:9477959, PubMed:26176916). Required for mesendoderm differentiation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169#function" }, { "database": "UniProtKB", "id": "P32037", "url": "https://www.uniprot.org/uniprot/P32037#function" }, { "database": "PubMed", "id": "26176916", "url": "https://glygen.org/publication/PubMed/26176916" }, { "database": "PubMed", "id": "9477959", "url": "https://glygen.org/publication/PubMed/9477959" }, { "database": "PubMed", "id": "8457197", "url": "https://glygen.org/publication/PubMed/8457197" } ] }, { "annotation": "GLUT3 promotes macrophage signaling and function via RAS-mediated endocytosis in atopic dermatitis and wound healing. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862" }, { "database": "PubMed", "id": "37721853", "url": "https://glygen.org/publication/PubMed/37721853" } ] }, { "annotation": "RIP140 inhibits glycolysis-dependent proliferation of breast cancer cells by regulating GLUT3 expression through transcriptional crosstalk between hypoxia induced factor and p53. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_008862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862" }, { "database": "PubMed", "id": "35501580", "url": "https://glygen.org/publication/PubMed/35501580" } ] }, { "annotation": "The YTHDC1/GLUT3/RNF183 axis forms a positive feedback loop that modulates glucose metabolism and bladder cancer progression.", "evidence": [ { "database": "RefSeq", "id": "NP_008862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862" }, { "database": "PubMed", "id": "37258572", "url": "https://glygen.org/publication/PubMed/37258572" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs138261424", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138261424" }, { "id": "rs138261424", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs138261424" }, { "id": "rs138261424", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs138261424" }, { "id": "rs138261424", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs138261424#frequency_tab" }, { "id": "rs138261424", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs138261424" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 223, "end_pos": 223, "sequence_org": "K", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAK->NAT).", "chr_id": "12", "chr_pos": "7930485", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000998", "site_lbl": "K223", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441465226", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441465226" }, { "id": "rs1441465226", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1441465226" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 234, "end_pos": 234, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DVS->NVS).", "chr_id": "12", "chr_pos": "7929845", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D234", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1441968959", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441968959" }, { "id": "rs1441968959", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1441968959#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 271, "end_pos": 271, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (IIS->NIS).", "chr_id": "12", "chr_pos": "7929733", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I271", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "P11169", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11169" } ], "glycoeffect": [], "start_pos": 425, "end_pos": 425, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "H", "sequence_mut": "Y", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "12", "chr_pos": "7921631", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "H425", "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] }, { "disease_id": "DOID:2531", "recommended_name": { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematologic cancer", "description": "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes." }, "synonyms": [ { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic malignancy", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematologic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "Hematological tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "blood cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic and lymphoid system tumor", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic cancer", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic neoplasm", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "hematopoietic tumors", "description": "" }, { "id": "DOID:2531", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2531", "name": "malignant hematopoietic neoplasm", "description": "" } ] }, { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "P11169", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11169" } ], "glycoeffect": [], "start_pos": 482, "end_pos": 482, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "E", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11169", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11169" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P11169", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11169" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169" } ], "common_name": "Human" } ], "gene": [ { "name": "SLC2A3", "url": "https://www.uniprot.org/uniprot/P11169", "locus": { "chromosome": "12", "start_pos": 7919230, "end_pos": 8019007, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000059804", "url": "https://www.ensembl.org/id/ENSG00000059804" } ] } } ], "crossref": [ { "id": "ENSG00000059804", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000059804", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "P11169", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/P11169", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd17431", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd17431", "database": "CDD", 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"http://www.omim.org/entry/138170", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P11169", "url": "https://www.nextprot.org/entry/NX_P11169", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P11169", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11169", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "YWIDYGT", "url": "https://omabrowser.org/oma/group/YWIDYGT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1899001at2759", "url": "http://www.orthodb.org/?query=1899001at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23503", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23503", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23503:SF99", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23503:SF99", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4ZW9", "url": "https://www.rcsb.org/structure/4ZW9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZWB", "url": "https://www.rcsb.org/structure/4ZWB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4ZWC", "url": "https://www.rcsb.org/structure/4ZWC", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5C65", "url": "https://www.rcsb.org/structure/5C65", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7CRZ", "url": "https://www.rcsb.org/structure/7CRZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7SPS", "url": "https://www.rcsb.org/structure/7SPS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7SPT", "url": "https://www.rcsb.org/structure/7SPT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00083", "url": "http://pfam.xfam.org/family/PF00083", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11169", "url": "https://pharos.nih.gov/targets/P11169", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11169", "url": "http://purl.obolibrary.org/obo/PR_P11169", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-6798695", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-6798695", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-9022699", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9022699", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_008862", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_008862", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "34915", "url": "https://www.rhea-db.org/rhea/34915", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "60376", "url": "https://www.rhea-db.org/rhea/60376", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "F5GYR5", "url": "https://www.uniprot.org/uniprot/F5GYR5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYR5-1", "url": "https://www.uniprot.org/uniprot/F5GYR5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYX0", "url": "https://www.uniprot.org/uniprot/F5GYX0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F5GYX0-1", "url": "https://www.uniprot.org/uniprot/F5GYX0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11169-1", "url": "https://www.uniprot.org/uniprot/P11169-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MGTQKVTPALIFAITVATIGSFQFGYNTGVINAPEKIIKEFINKTLTDKGNAPPSEVLLTSLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLIVNLLAVTGGCFMGLCKVAKSVEMLILGRLVIGLFCGLCTGFVPMYIGEISPTALRGAFGTLNQLGIVVGILVAQIFGLEFILGSEELWPLLLGFTILPAILQSAALPFCPESPRFLLINRKEEENAKQILQRLWGTQDVSQDIQEMKDESARMSQEKQVTVLELFRVSSYRQPIIISIVLQLSQQLSGINAVFYYSTGIFKDAGVQEPIYATIGAGVVNTIFTVVSLFLVERAGRRTLHMIGLGGMAFCSTLMTVSLLLKDNYNGMSFVCIGAILVFVAFFEIGPGPIPWFIVAELFSQGPRPAAMAVAGCSNWTSNFLVGLLFPSAAHYLGAYVFIIFTGFLITFLAFTFFKVPETRGRTFEDITRAFEGQAHGADRSGKDGVMEMNSIEPAKETTTNV", "length": 496, "header": "sp|P11169-1|GTR3_HUMAN Isoform 1 of Solute carrier family 2, facilitated glucose transporter member 3 OS=Homo sapiens OX=9606 GN=SLC2A3 PE=1 SV=1 CANONICAL=P11169-1" }, "isoforms": [ { "isoform_ac": "F5GYR5-1", "url": "", "sequence": { "sequence": "MGTQKIIKEFINKTLTDKGNAPPSEVLLTSLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLIVNLLAVTGGCFMGLCKVAKSVEMLILGRLVIGLFCGLCTGFVPMYIGEISPTALRGAFGTLNQLGIVVGILVAQIF", "length": 141, "header": "tr|F5GYR5-1|F5GYR5_HUMAN Computationally mapped isoform of Solute carrier family 2 member 3 OS=Homo sapiens OX=9606 GN=SLC2A3 PE=1 SV=8 CANONICAL=P11169-1" }, "locus": { "chromosome": "12", "start_pos": 7936034, "end_pos": 7930637, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544291.1", "url": "https://www.ensembl.org/id/ENST00000544291.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000440750.1", "url": "https://www.ensembl.org/id/ENSP00000440750.1" } ] } }, { "isoform_ac": "F5GYX0-1", "url": "", "sequence": { "sequence": "MGTQKVTPALIFAITVATIGSFQFGYNTGVINAPEKSVLPPTLLFCRS", "length": 48, "header": "tr|F5GYX0-1|GTR3_HUMAN Computationally mapped isoform of Solute carrier family 2, facilitated glucose transporter member 3 OS=Homo sapiens OX=9606 GN=SLC2A3 PE=1 SV=1 CANONICAL=P11169-1" }, "locus": { "chromosome": "12", "start_pos": 7936034, "end_pos": 7933144, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000544936.1", "url": "https://www.ensembl.org/id/ENST00000544936.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000441496.1", "url": "https://www.ensembl.org/id/ENSP00000441496.1" } ] } }, { "isoform_ac": "P11169-1", "url": "", "sequence": { "sequence": "MGTQKVTPALIFAITVATIGSFQFGYNTGVINAPEKIIKEFINKTLTDKGNAPPSEVLLTSLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLIVNLLAVTGGCFMGLCKVAKSVEMLILGRLVIGLFCGLCTGFVPMYIGEISPTALRGAFGTLNQLGIVVGILVAQIFGLEFILGSEELWPLLLGFTILPAILQSAALPFCPESPRFLLINRKEEENAKQILQRLWGTQDVSQDIQEMKDESARMSQEKQVTVLELFRVSSYRQPIIISIVLQLSQQLSGINAVFYYSTGIFKDAGVQEPIYATIGAGVVNTIFTVVSLFLVERAGRRTLHMIGLGGMAFCSTLMTVSLLLKDNYNGMSFVCIGAILVFVAFFEIGPGPIPWFIVAELFSQGPRPAAMAVAGCSNWTSNFLVGLLFPSAAHYLGAYVFIIFTGFLITFLAFTFFKVPETRGRTFEDITRAFEGQAHGADRSGKDGVMEMNSIEPAKETTTNV", "length": 496, "header": "sp|P11169-1|GTR3_HUMAN Isoform 1 of Solute carrier family 2, facilitated glucose transporter member 3 OS=Homo sapiens OX=9606 GN=SLC2A3 PE=1 SV=1 CANONICAL=P11169-1" }, "locus": { "chromosome": "12", "start_pos": 7936034, "end_pos": 7921416, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000707174.1", "url": "https://www.ensembl.org/id/ENST00000707174.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000516774.1", "url": "https://www.ensembl.org/id/ENSP00000516774.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 43, "start_aa": "Asn", "end_pos": 43, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn43", "evidence": [ { "id": "P11169", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11169#ptm_processing" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P11169", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11169" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "28510447", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28510447" } ] } ], "phosphorylation": [ { "start_pos": 232, "end_pos": 232, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169" }, { "database": "iPTMnet", "id": "P11169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11169" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" } ], "site_lbl": "Thr232" }, { "start_pos": 475, "end_pos": 475, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169" } ], "site_lbl": "Ser475" }, { "start_pos": 485, "end_pos": 485, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169" }, { "database": "iPTMnet", "id": "P11169", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11169" }, { "database": "PubMed", "id": "18452278", "url": "https://glygen.org/publication/PubMed/18452278" }, { "database": "PubMed", "id": "18578522", "url": "https://glygen.org/publication/PubMed/18578522" }, { "database": "PubMed", "id": "19413330", "url": "https://glygen.org/publication/PubMed/19413330" }, { "database": "PubMed", "id": "19651622", "url": "https://glygen.org/publication/PubMed/19651622" }, { "database": "PubMed", "id": "19664994", "url": "https://glygen.org/publication/PubMed/19664994" }, { "database": "phospho.ELM", "id": "P11169", "url": "http://phospho.elm.eu.org/byAccession/P11169.html" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser485" }, { "start_pos": 492, "end_pos": 492, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "Phosphothreonine", "evidence": [ { "database": "UniProtKB", "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169" } ], "site_lbl": "Thr492" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Human placental sodium-dependent vitamin C transporter (SVCT2): molecular cloning and transport function.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Rajan DP, Huang W, Dutta B, Devoe LD, Leibach FH, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10471399", "url": "https://glygen.org/publication/PubMed/10471399" } ] }, { "title": "Human Na(+)-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variant.", "journal": "Biochimica et biophysica acta", "date": "1999", "authors": "Wang H, Dutta B, Huang W, Devoe LD, Leibach FH, Ganapathy V, Prasad PD", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10556483", "url": "https://glygen.org/publication/PubMed/10556483" } ] }, { "title": "Cloning and functional characterization of the human sodium-dependent vitamin C transporters hSVCT1 and hSVCT2.", "journal": "FEBS letters", "date": "1999", "authors": "Daruwala R, Song J, Koh WS, Rumsey SC, Levine M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10556521", "url": "https://glygen.org/publication/PubMed/10556521" } ] }, { "title": "Identification, characterization, and crystal structure of the Omega class glutathione transferases.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Board PG, Coggan M, Chelvanayagam G, Easteal S, Jermiin LS, Schulte GK, Danley DE, Hoth LR, Griffor MC, Kamath AV, Rosner MH, Chrunyk BA, Perregaux DE, Gabel CA, Geoghegan KF, Pandit J", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10783391", "url": "https://glygen.org/publication/PubMed/10783391" } ] }, { "title": "GLUT8, a novel member of the sugar transport facilitator family with glucose transport activity.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Doege H, Schurmann A, Bahrenberg G, Brauers A, Joost HG", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10821868", "url": "https://glygen.org/publication/PubMed/10821868" } ] }, { "title": "Cloning and expression analysis of a novel member of the facilitative glucose transporter family, SLC2A9 (GLUT9).", "journal": "Genomics", "date": "2000", "authors": "Phay JE, Hussain HB, Moley JF", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10860667", "url": "https://glygen.org/publication/PubMed/10860667" } ] }, { "title": "Dehydroascorbic acid transport by GLUT4 in Xenopus oocytes and isolated rat adipocytes.", "journal": "The Journal of biological chemistry", "date": "2000", "authors": "Rumsey SC, Daruwala R, Al-Hasani H, Zarnowski MJ, Simpson IA, Levine M", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "10862609", "url": "https://glygen.org/publication/PubMed/10862609" } ] }, { "title": "Activity and genomic organization of human glucose transporter 9 (GLUT9), a novel member of the family of sugar-transport facilitators predominantly expressed in brain and leucocytes.", "journal": "The Biochemical journal", "date": "2000", "authors": "Doege H, Bocianski A, Joost HG, Schurmann A", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10970791", "url": "https://glygen.org/publication/PubMed/10970791" } ] }, { "title": "A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renal glycogenosis with Fanconi syndrome and low phosphorylase kinase activity.", "journal": "Human genetics", "date": "1999", "authors": "Burwinkel B, Sanjad SA, Al-Sabban E, Al-Abbad A, Kilimann MW", "evidence": [ { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "10987651", "url": "https://glygen.org/publication/PubMed/10987651" } ] }, { "title": "Renal Na(+)-glucose cotransporters.", "journal": "American journal of physiology. 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specificities and effects of transport inhibitors.", "journal": "The Biochemical journal", "date": "1993", "authors": "Colville CA, Seatter MJ, Jess TJ, Gould GW, Thomas HM", "evidence": [ { "database": "UniProtKB", "id": "P11169", "url": "https://www.uniprot.org/uniprot/P11169" }, { "database": "Reactome", "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200" } ], "reference": [ { "type": "PubMed", "id": "8457197", "url": "https://glygen.org/publication/PubMed/8457197" } ] }, { "title": "NADH-cytochrome b5 reductase and cytochrome b5 isoforms as models for the study of post-translational targeting to the endoplasmic reticulum.", "journal": "FEBS letters", "date": "1993", "authors": "Borgese N, D'Arrigo A, De Silvestris M, Pietrini G", "evidence": [ { "database": "Reactome", "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836" } ], "reference": [ { "type": "PubMed", "id": "8513896", "url": 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